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Biochemistry of the X-Linked Uric Aciduria—Enzyme Defect and Its Genetic Variants
William N. Kelley, MD
Arch Intern Med. 1972;130(2):199-206.
Abstract
Human hypoxanthine-guanine phosphoribosyltransferase manifests distinct kinetic, physical, and immunologic properties. A comparison of the normal and spontaneously occurring mutant forms of the enzyme indicates that its deficiency results from a large number of different mutations on a structural gene which is located within the X chromosome. This striking genetic heterogeneity is associated with the development of two distinctive clinical syndromes, the Lesch-Nyhan syndrome and a specific sub-type of gout.
Author Affiliations
Durham, NC
From the Division of Rheumatic and Genetic Diseases; departments of medicine and biochemistry, Duke University Medical Center, Durham, NC.
Footnotes
Received for publication Jan 5, 1972; accepted Feb 17.
Reprint requests to PO Box 3211, Duke University Medical Center, Durham, NC (Dr. Kelley).
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THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES
Further Studies of the Enzyme Composition of Mutant Cells in X-Linked Uric Aciduria
Sweetman and Nyhan
Arch Intern Med 1972;130:214-220.
ABSTRACT
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